RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Encephalocele
Accession: DOID:9000983
browse the term
Definition: Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur.
Synonyms: exact_synonym: Acquired Encephalocele; Acquired Encephaloceles; Bifid Cranium; Bifid Craniums; Cephalocele; Cephaloceles; Cerebellar Hernia; Cerebellar Hernias; Cerebellar Herniation; Cerebellar Herniations; Cerebral Hernia; Cerebral Hernias; Cranial Meningoencephalocele; Cranial Meningoencephaloceles; Craniocele; Cranioceles; Cranium Bifidum; Cranium Bifidums; Encephaloceles; Frontal Encephalocele; Frontal Encephaloceles; Notoencephalocele; Notoencephaloceles; Occipital Encephalocele; Occipital Encephaloceles; Sincipital Encephalocele; Sincipital Encephaloceles; Tonsillar Hernia; Tonsillar Hernias; Tonsillar Herniation; Tonsillar Herniations
primary_id: MESH:D004677 ; RDO:0001577
For additional species annotation, visit the
Alliance of Genome Resources .
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Cc2d2a
coiled-coil and C2 domain containing 2A
ISO
ClinVar Annotator: match by term: Encephalocele
ClinVar
PMID:25741868 PMID:26862157 PMID:31680349
NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
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Cep290
centrosomal protein 290
ISO
ClinVar Annotator: match by term: Occipital encephalocele ClinVar Annotator: match by term: Encephalocele
ClinVar
PMID:17345604 PMID:17564974 PMID:17705300 PMID:20683928 PMID:21866095 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28497568 PMID:29398085 PMID:31680349
NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
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Dnai3
dynein axonemal intermediate chain 3
ISO
ClinVar Annotator: match by term: Occipital encephalocele
ClinVar
PMID:29285825
NCBI chr 2:251,912,432...251,970,699
Ensembl chr 2:251,912,368...251,970,768
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Pibf1
progesterone immunomodulatory binding factor 1
ISO
ClinVar Annotator: match by term: Cephalocele
ClinVar
PMID:30858804 PMID:31474318
NCBI chr15:83,494,110...83,663,202
Ensembl chr15:83,495,377...83,663,143
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Rpgrip1l
Rpgrip1-like
ISO
associated with Meckel Syndrome, Type 5;DNA:mutations:exons:
RGD
PMID:17558409
RGD:11073359
NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
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Szt2
SZT2 subunit of KICSTOR complex
ISO
ClinVar Annotator: match by term: Encephalocele
ClinVar
PMID:23932106 PMID:25741868 PMID:28492532 PMID:31680349
NCBI chr 5:137,192,120...137,238,384
Ensembl chr 5:137,190,875...137,238,354
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Adamts18
ADAM metallopeptidase with thrombospondin type 1 motif, 18
ISO
ClinVar Annotator: match by synonym: Knobloch syndrome 1
ClinVar
PMID:21862674 PMID:23667181
NCBI chr19:46,005,055...46,167,912
Ensembl chr19:46,005,277...46,101,250
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Col18a1
collagen type XVIII alpha 1 chain
ISO
ClinVar Annotator: match by term: Knobloch syndrome 1 ClinVar Annotator: match by OMIM:267750 ClinVar Annotator: match by term: RETINAL DETACHMENT AND OCCIPITAL ENCEPHALOCELE
OMIM ClinVar
PMID:1554013 PMID:10942434 PMID:12415512 PMID:14695535 PMID:17546652 PMID:17975799 PMID:19160445 PMID:19390655 PMID:20799329 PMID:20979194 PMID:21862674 PMID:21937992 PMID:23667181 PMID:24033266 PMID:25456301 PMID:25741868 PMID:26467025 PMID:28041643 PMID:28492532 PMID:29977801 PMID:30007336 PMID:32860008
NCBI chr20:12,225,202...12,332,858
Ensembl chr20:12,225,202...12,332,858
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Slc19a1
solute carrier family 19 member 1
ISO
ClinVar Annotator: match by term: Knobloch syndrome 1
ClinVar
PMID:1554013 PMID:14695535 PMID:19390655 PMID:21862674 PMID:23667181 PMID:24033266 PMID:25456301 PMID:25741868 PMID:26467025 PMID:28041643 PMID:28492532 PMID:29977801 PMID:32860008
NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
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Cc2d2a
coiled-coil and C2 domain containing 2A
ISO
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA
ClinVar
PMID:18950740 PMID:19777577 PMID:22241855 PMID:22425360 PMID:23012439 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26477546 PMID:26485645 PMID:27081510 PMID:27082236 PMID:28492532
NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
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Cep290
centrosomal protein 290
ISO
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar
PMID:16909394 PMID:17345604 PMID:17564974 PMID:20079931 PMID:20690115 PMID:21153841 PMID:21602930 PMID:21866095 PMID:23027964 PMID:23188109 PMID:23351400 PMID:23559409 PMID:25741868 PMID:26047050 PMID:26092869 PMID:28492532 PMID:28497568 PMID:29398085
NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
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Mks1
MKS transition zone complex subunit 1
ISO
ClinVar Annotator: match by term: Meckel syndrome type 1 DNA:splice-site mutations:intron:c.870-2A>G, c.1546+1G¿¿¿>A (human) DNA:deletion:intron:IVS15-7_35del (human) DNA:splice-site mutation:intron:c.515 + 6T>C (mouse) DNA:missense mutations, splice-site mutations:exon:c.417G>A, c.958G>A (p.V320I), c.1490G>A (p.R497K) (human) ClinVar Annotator: match by OMIM:249000 ClinVar Annotator: match by null
OMIM ClinVar
PMID:16415886 PMID:17185389 PMID:17377820 PMID:17397051 PMID:17437276 PMID:17935508 PMID:18327255 PMID:19430481 PMID:21068128 PMID:21258341 PMID:23351400 PMID:23736532 PMID:24033266 PMID:24608809 PMID:24886560 PMID:25741868 PMID:25966130 PMID:26092869 PMID:26490104 PMID:27377014 PMID:27570071 PMID:28224992 PMID:28492532 PMID:28497568 PMID:30718709 , PMID:23351400 , PMID:17935508 , PMID:19776033 , PMID:21045211 , PMID:17397051
RGD:11535078 , RGD:11535074 , RGD:11535068 , RGD:11535065 , RGD:11063991
NCBI chr10:75,149,814...75,160,481
Ensembl chr10:75,149,814...75,160,480
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Rpgrip1l
Rpgrip1-like
ISO
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar
PMID:17558409 PMID:19430481 PMID:25741868 PMID:28492532
NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
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Tmem107
transmembrane protein 107
ISO
ClinVar Annotator: match by term: Meckel syndrome type 1
ClinVar
PMID:25741868 PMID:27571260
NCBI chr10:55,653,694...55,656,270
Ensembl chr10:55,653,946...55,656,270
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Tmem67
transmembrane protein 67
ISO
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar
PMID:9375913 PMID:17377820 PMID:17397051 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:24033266 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28431631 PMID:28492532 PMID:29891882
NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
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Tmem107
transmembrane protein 107
ISO
ClinVar Annotator: match by term: MECKEL SYNDROME 13
ClinVar OMIM
PMID:26123494 PMID:26595381
NCBI chr10:55,653,694...55,656,270
Ensembl chr10:55,653,946...55,656,270
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Tmem216
transmembrane protein 216
ISO
ClinVar Annotator: match by term: Meckel syndrome, type 2 ClinVar Annotator: match by term: Meckel syndrome type 2 ClinVar Annotator: match by OMIM:603194 DNA:missense,frameshift,nonsense mutations:cds,splice junction:
OMIM ClinVar
PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 PMID:22282472 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26673778 PMID:28492532 PMID:28497568 , PMID:20512146
RGD:11067331
NCBI chr 1:226,601,201...226,606,417
Ensembl chr 1:226,601,201...226,606,344
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Tmem67
transmembrane protein 67
ISO IAGP
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 3 ClinVar Annotator: match by term: Meckel syndrome, type 3 ClinVar Annotator: match by term: Meckel syndrome type 3 DNA:deletion DNA:deletions, missense mutation, splice-site mutations: :multiple DNA:missense mutation:exon:p.P394L (rat) DNA:missense mutation:exon:p.R549C (c.1645C>T) (human) DNA:missense mutations: :p.M252T (c.755T>C), p.R441C (c.1392C>T) (human) DNA:missense mutations:exon: p.M252T (755T>C), p.R440Q (1319G>A), p.L966P (2897T>C) (human) DNA:missense mutations, splice-site mutation:exon:multiple ClinVar Annotator: match by OMIM:607361
OMIM ClinVar
PMID:2929661 PMID:9375913 PMID:16415887 PMID:16541367 PMID:17160906 PMID:17185389 PMID:17377820 PMID:17397051 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21633164 PMID:21866095 PMID:22121117 PMID:23351400 PMID:23559409 PMID:25326635 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26467025 PMID:26729329 PMID:28289063 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28973083 PMID:29127258 PMID:29891882 PMID:29974258 , PMID:19211713 , PMID:16415887 , PMID:16415887 , PMID:26191240 , PMID:23351400 , PMID:17377820 , PMID:17397051
RGD:11535945 , RGD:11535082 , RGD:11535082 , RGD:11535080 , RGD:11535078 , RGD:11068761 , RGD:11063991
NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
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Tmem67wpk
transmembrane protein 67; wpk mutant
IAGP
RGD
PMID:16415887
RGD:11535082
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Cep290
centrosomal protein 290
ISO
ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar Annotator: match by term: Meckel syndrome type 4 ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4 ClinVar Annotator: match by OMIM:611134 DNA:frameshift mutation:exon:c.5489del (human)
OMIM ClinVar
PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 PMID:17564974 PMID:17705300 PMID:18414213 PMID:19466712 PMID:19764032 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21602930 PMID:21866095 PMID:22355252 PMID:22693042 PMID:23027964 PMID:23351400 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24265693 PMID:25097241 PMID:25741868 PMID:25818971 PMID:26047050 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26667666 PMID:27353947 PMID:28041643 PMID:28492532 PMID:28497568 PMID:29146704 PMID:29398085 PMID:29588463 PMID:30718709 PMID:31680349 PMID:31734136 , PMID:17705300
RGD:11070805
NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
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RGD1307947
similar to RIKEN cDNA C430008C19
ISO
ClinVar Annotator: match by term: Meckel syndrome, type 4
ClinVar
PMID:28492532
NCBI chr 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532
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Tmem218
transmembrane protein 218
ISO
ClinVar Annotator: match by term: Meckel syndrome, type 4
ClinVar
NCBI chr 8:39,687,280...39,702,722
Ensembl chr 8:39,687,269...39,702,902
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Rpgrip1l
Rpgrip1-like
ISO
ClinVar Annotator: match by term: Meckel syndrome, type 5 ClinVar Annotator: match by term: Meckel syndrome type 5 ClinVar Annotator: match by OMIM:611561
OMIM ClinVar
PMID:17558409 PMID:18414213 PMID:19430481 PMID:21068128 PMID:23188109 PMID:24033266 PMID:25741868 PMID:27434533 PMID:28492532 PMID:29343940 PMID:29991045
NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
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Cc2d2a
coiled-coil and C2 domain containing 2A
ISO
ClinVar Annotator: match by term: Meckel syndrome type 6 ClinVar Annotator: match by term: Meckel syndrome, type 6 ClinVar Annotator: match by OMIM:612284 ClinVar Annotator: match by null
OMIM ClinVar
PMID:8253763 PMID:18414213 PMID:18513680 PMID:18950740 PMID:19466712 PMID:19777577 PMID:21068128 PMID:21370303 PMID:22241855 PMID:22995991 PMID:24360807 PMID:24706459 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26729329 PMID:27081510 PMID:27082236 PMID:27894351 PMID:28492532 PMID:32488064
NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
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Cep290
centrosomal protein 290
ISO
ClinVar Annotator: match by term: Meckel syndrome type 6
ClinVar
PMID:16682970 PMID:16682973 PMID:17564967 PMID:18327255 PMID:18414213 PMID:21068128 PMID:21245082 PMID:22355252 PMID:22693042 PMID:23591405 PMID:23954617 PMID:25741868 PMID:25818971 PMID:26092869 PMID:27353947 PMID:28492532 PMID:30718709
NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
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Tctn2
tectonic family member 2
ISO
ClinVar Annotator: match by term: Meckel syndrome type 6
ClinVar
PMID:21462283 PMID:23169490 PMID:26729329
NCBI chr12:37,400,896...37,427,256
Ensembl chr12:37,363,906...37,425,596
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Kif14
kinesin family member 14
ISO
ClinVar Annotator: match by term: Meckel syndrome 12
ClinVar OMIM
PMID:24128419 PMID:25741868
NCBI chr13:53,350,073...53,421,992
Ensembl chr13:53,351,717...53,420,111
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Alx4
ALX homeobox 4
ISO
ClinVar Annotator: match by term: Enlarged parietal foramina CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:11137991
NCBI chr 3:82,548,959...82,585,531
Ensembl chr 3:82,548,959...82,585,531
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Msx2
msh homeobox 2
ISO
ClinVar Annotator: match by term: Enlarged parietal foramina CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Parietal foramina
ClinVar CTD
PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 PMID:11137991 PMID:18786927 PMID:23918290 PMID:23949913 PMID:27013732 PMID:27884935 PMID:28492532 PMID:28808027
NCBI chr17:11,683,862...11,689,527
Ensembl chr17:11,683,862...11,689,527
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Msx2
msh homeobox 2
ISO
ClinVar Annotator: match by null ClinVar Annotator: match by term: Parietal foramina 1
ClinVar OMIM
PMID:10742103 PMID:10767351 PMID:16222674 PMID:25741868 PMID:28492532
NCBI chr17:11,683,862...11,689,527
Ensembl chr17:11,683,862...11,689,527
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Alx4
ALX homeobox 4
ISO
ClinVar Annotator: match by OMIM:609597 ClinVar Annotator: match by term: Parietal foramina 2
OMIM ClinVar
PMID:11106354 PMID:11137991 PMID:16319823 PMID:22829454 PMID:24764194 PMID:28492532
NCBI chr 3:82,548,959...82,585,531
Ensembl chr 3:82,548,959...82,585,531
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Msx2
msh homeobox 2
ISO
ClinVar Annotator: match by null
OMIM ClinVar
PMID:14571277
NCBI chr17:11,683,862...11,689,527
Ensembl chr17:11,683,862...11,689,527
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